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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
AAK1 - AP2 Associated Kinase 1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丝氨酸/苏氨酸蛋白激酶SNF1亚家族的一员。适应蛋白相关复合物2(AP-2复合物)在受体介导的内吞作用期间发挥作用,触发氯素装配,与膜结合受体相互作用,并招募内吞辅助因子。编码的蛋白质与AP-2复合物的亚单位相互作用并对其磷酸化,从而促进AP-2与位于膜结合受体中的分类信号结合,并随后受体内吞。其激酶活性受氯素刺激。研究表明,这种激酶在调节狂犬病病毒的氯素介导的内吞中扮演重要角色,促进感染。研究人员正在研究这种激酶的抑制剂作为破坏病毒(包括SARS-CoV-2)进入靶细胞的候选治疗剂。它还在哺乳动物中参与Notch途径信号的正调控。已经描述了可变剪接转录变异体,但其生物学有效性尚未确定。[RefSeq,2020年8月提供]
Related ID:
NCBI:22848
ENSEMBL:ENSG00000115977
HGNC:19679
UNIPROT:Q2M2I8
OMIM:616405
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22848
3
22
185743 bp
103.89
32
--
5
29
AAK1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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